Canonical Allele Identifier: CA696361425

Gene: GJB2

Linked Data

• dbSNP Id: rs1200863900
• gnomAD v3: 13-20187921-C-T
• gnomAD v4: 13-20187921-C-T
• MyVariant Identifiers: chr13:g.20762060C>T (hg19) ; chr13:g.20187921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187921C>T , CM000675.2:g.20187921C>T	GRCh38
NC_000013.10:g.20762060C>T , CM000675.1:g.20762060C>T	GRCh37
NC_000013.9:g.19660060C>T	NCBI36
NG_008358.1:g.10055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*980G>A	ENSP00000372295.1:n.*980G>A
ENST00000382848.5:c.*980G>A MANE Select	ENSP00000372299.4:n.*980G>A
ENST00000382844.1:c.*980G>A	ENSP00000372295.1:n.*980G>A
ENST00000382848.4:c.*980G>A	ENSP00000372299.4:n.*980G>A
NM_004004.5:c.*980G>A	NP_003995.2:n.*980G>A
XM_011535049.1:c.*980G>A	XP_011533351.1:n.*980G>A
XM_011535049.2:c.*980G>A	XP_011533351.1:n.*980G>A
NM_004004.6:c.*980G>A MANE Select	NP_003995.2:n.*980G>A